Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.D175H

CPA1

133 papers

RefSeq Summary

This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino ac...

Pfam Domains

Propep_M14aa 26–100UCSCCarboxypeptidase activation peptide
Peptidase_M14aa 128–406UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase A1

HGNC Previous Name

carboxypeptidase A1 (pancreatic)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001868.4
p.D175H
c.523G>C
Surrounding Variants
1 paper
NM_001868.4
p.D175V
c.524A>T
1 paper
NM_001868.4
p.T176M
c.527C>T
1 paper
NM_001868.4
p.W173R
c.517T>A
1 paper
NM_001868.4
p.I172I
c.516C>A
1 paper
NM_001868.4
p.G177V
c.530G>T
1 paper
NM_001868.4
p.G177G
c.531C>G
1 paper
NM_001868.4
p.I172N
c.515T>A
1 paper
NM_001868.4
p.I178V
c.532A>G
1 paper
NM_001868.4
p.A171T
c.511G>A
1 paper
NM_001868.4
p.P170insFs
c.509_510insGG
6 papers
NM_001868.4
p.R169H
c.506G>A
1 paper
NM_001868.4
p.R169C
c.505C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."